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Approved research

Large-scale whole genome sequencing of the UK Biobank cohort to generate and evaluate therapeutic hypotheses regarding targets, biomarkers and pathways implicated in disease

Principal Investigator: Professor John Whittaker
Approved Research ID: 52293
Approval date: February 3rd 2020

Lay summary

Whole genome sequencing of samples from the UK Biobank will lead to the identification of genetic variants within the human genome that can be associated with the more than 10,000 disease features and traits already captured within the study cohort. This will help to improve our understanding of the impact of gene function and the regulation of gene expression on disease mechanisms. The addition of whole genome data to the increasing availability of exome (and existent genotype) data within the resource will greatly improve our understanding of the contribution of both rare, non-coding variants and the different types of structural alteration to disease progression. This is much less understood today, and the output of this research project will heavily influence the basis of human genetics research over the next decade (with significant implications for drug discovery and clinical care). This access application (funded by a sizeable contribution from each of industry, charity and UK government) will provide a short period of exclusive access to its industry funders (to support drug discovery and other health-related research) enabling whole genome sequence data for the whole cohort being available to all researchers (and on an accelerated timeline that would not otherwise be possible).